Department of Medical Genetics

114(top 1%)

papers

1.9K(top 1%)

citations

25(top 1%)

h-index

38(top 1%)

g-index

179

all documents

2.1K

doc citations

786

citing journals

111

times ranked

Top Articles

#	Title	Journal	Year	Citations
1	ING4 induces G2/M cell cycle arrest and enhances the chemosensitivity to DNA-damage agents in HepG2 cells	FEBS Letters	2004	97
2	Mutations in HOXD13 Underlie Syndactyly Type V and a Novel Brachydactyly-Syndactyly Syndrome	American Journal of Human Genetics	2007	94
3	Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+P253R mice	BMC Developmental Biology	2010	70
4	A deletion mutation in the ?A1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family	Human Genetics	2004	64
5	The E3 Ligase Smurf1 Regulates Wolfram Syndrome Protein Stability at the Endoplasmic Reticulum	Journal of Biological Chemistry	2011	62
6	Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria	British Journal of Dermatology	2006	57
7	Missense mutations prevalent in orientals with phenylketonuria: Molecular characterization and clinical implications	Genomics	1991	53
8	A novel locus for autosomal dominant hereditary gingival fibromatosis, GINGF3, maps to chromosome 2p22.3-p23.3	Clinical Genetics	2005	50
9	Novel point mutations in GDF5 associated with two distinct limb malformations in Chinese: brachydactyly type C and proximal symphalangism	Journal of Human Genetics	2008	47
10	The same “TATA” box β-thalassemia mutation in Chinese and US blacks: another example of independent origins of mutation	Human Genetics	1986	45
11	Postaxial polydactyly type A/B (PAP-A/B) is linked to chromosome 19p13.1-13.2 in a chinese kindred	European Journal of Human Genetics	2002	45
12	Quantitative proteome analysis of HCC cell lines with different metastatic potentials by SILAC	Proteomics	2008	45
13	Differences in mtDNA whole sequence between Tibetan and Han populations suggesting adaptive selection to high altitude	Gene	2012	45
14	Distribution of HLA‐A, ‐B, ‐Cw, and ‐DRB1 alleles and haplotypes in an isolated Han population in Southwest China	Tissue Antigens	2009	43
15	Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)	Journal of Medical Genetics	2020	43
16	A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis	Human Genetics	2006	42
17	Aneuploid embryonic stem cells exhibit impaired differentiation and increased neoplastic potential	EMBO Journal	2016	40
18	Novel Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) in Chinese Families with Dyschromatosis Symmetrica Hereditaria	Journal of Investigative Dermatology	2004	38
19	An unexpected role for p53 in regulating cancer cell–intrinsic PD-1 by acetylation	Science Advances	2021	32
20	Positive association of heparanase expression with tumor invasion and lymphatic metastasis in gastric carcinoma	Modern Pathology	2005	30
21	Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations	Journal of Human Genetics	2010	28
22	The Involvement of NFAT Transcriptional Activity Suppression in SIRT1-Mediated Inhibition of COX-2 Expression Induced by PMA/Ionomycin	PLoS ONE	2014	28
23	Hemoglobin Shuangfeng (α27(B8) GLb→LYS): A New Unstable Hemoglobin Variant	Hemoglobin	1981	27
24	A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression	Human Genetics	2006	27
25	Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis	Clinical Genetics	2012	27
26	CYP17A1 mutations identified in 17 Chinese patients with 17α-hydroxylase/17,20-lyase deficiency	Gynecological Endocrinology	2013	26
27	Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations	Behavioral and Brain Functions	2008	25
28	Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations	Journal of Human Genetics	2017	25
29	Mitochondrial haplogroup M9a1a1c1b is associated with hypoxic adaptation in the Tibetans	Journal of Human Genetics	2016	23
30	Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes	Human Mutation	2003	22
31	Strong association of SLC1A1 and DPF3 gene variants with idiopathic male infertility in Han Chinese	Asian Journal of Andrology	2017	22
32	Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3	Human Genetics	1997	21
33	Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients	Human Genetics	1997	21
34	Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies	Scientific Reports	2017	21
35	Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature	Journal of Genetics and Genomics	2021	21
36	Localization of a Human Nucleoporin 155 Gene (NUP155) to the 5p13 Region and Cloning of Its cDNA	Genomics	1999	20
37	The association between HLA‐A, ‐B alleles and major histocompatibility complex class I polymorphic Alu insertions in four populations in China	Tissue Antigens	2009	20
38	Identification of novel FBN1 variations implicated in congenital scoliosis	Journal of Human Genetics	2020	20
39	Deciphering the PTM codes of the tumor suppressor p53	Journal of Molecular Cell Biology	2022	19
40	Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia	Oncotarget	2017	18
41	Identification of sequence variants associated with severe microtia-astresia by targeted sequencing	BMC Medical Genomics	2019	18
42	Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta	Frontiers in Genetics	2020	18
43	Type I interferonopathies with novel compound heterozygous TREX1 mutations in two siblings with different symptoms responded to tofacitinib	Pediatric Rheumatology	2021	18
44	Identification of three novel PKU mutations among Chinese: Evidence for recombination or recurrent mutation at the PAH locus	Genomics	1992	17
45	N-methylpurine DNA glycosylase inhibits p53-mediated cell cycle arrest and coordinates with p53 to determine sensitivity to alkylating agents	Cell Research	2012	17
46	Three novel homozygous mutations in the GNPTG gene that cause mucolipidosis type III gamma	Gene	2014	17
47	Increase of a group of PTC+ transcripts by curcumin through inhibition of the NMD pathway	Biochimica Et Biophysica Acta - Gene Regulatory Mechanisms	2015	16
48	Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families	BMC Medical Genetics	2018	15
49	Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta	Clinica Chimica Acta	2019	15
50	Medical genetics in China.	Journal of Medical Genetics	1988	14

Profile

Scientometrics

Citing Bodies

Department of Medical Genetics

Top Articles